Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 164, Issue 9, Pages 2276-2286Publisher
WILEY
DOI: 10.1002/ajmg.a.36652
Keywords
Mayer-Rokitansky-Kuster-Hauser syndrome; uterovaginal agenesis; Mullerian aplasia; uterus, Mullerian duct anomalies; familial occurrence; amenorrhea; hereditary renal agenesis
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Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a congenital disorder of still unknown etiology, characterized by uterovaginal agenesis and can be associated with renal, skeletal and cardiac malformations. Most cases are sporadic. We report on a familial case of two female cousins with MRKH syndrome and unilateral renal agenesis. Family history revealed two cases of renal agenesis in male relatives and ultrasonographic (US) examination of healthy relatives diagnosed an uncle with multiple renal cysts. We have reviewed the literature on familial occurrence of MRKH syndrome and its associated anomalies and collected a total of 67 familial cases. We found familial cases to share the same associated anomalies as sporadic cases and we discuss the necessity of US examination of healthy relatives. (C) 2014 Wiley Periodicals, Inc.
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